Pseudoachondroplasia in a child with prolapse of the mitral valve
| dc.authorid | 113274 | en_US |
| dc.contributor.author | Karakurt, Cemşit | |
| dc.contributor.author | Karademir, Selmin | |
| dc.contributor.author | Üner, Çiğdem | |
| dc.date.accessioned | 2018-02-01T07:20:24Z | |
| dc.date.available | 2018-02-01T07:20:24Z | |
| dc.date.issued | 2001 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description | Cardiol Young 2001; 11: 559–561. | en_US |
| dc.description.abstract | t Pseudoachondroplasia is an autosomal dominant variant of osteochondroplasia that results in mild to severe short-limb dwarfism and early-onset of osteoarthrosis. It has been linked to results from mutations in the gene for cartilage oligomeric matrix protein. We describe a 4-year-old boy with pseudoachondroplasia who also had prolapse of the mitral valve. To the best of our knowledge, this association has not previously been reported. | en_US |
| dc.identifier.citation | Karakurt, C., Karademir, S., Üner, Ç. (2001). Pseudoachondroplasia in a child with prolapse of the mitral valve. Cardiol Young 2001; 11: 559–561. | en_US |
| dc.identifier.doi | 10.1017/S1047951101000828 | en_US |
| dc.identifier.endpage | 561 | en_US |
| dc.identifier.issue | 0 | en_US |
| dc.identifier.startpage | 559 | en_US |
| dc.identifier.uri | https://www.cambridge.org/core/services/aop-cambridge-core/content/view/09F05C1480FAD4ACA832A32A46DDA6A2/S1047951101000828a.pdf/pseudoachondroplasia_in_a_child_with_prolapse_of_the_mitral_valve.pdf | |
| dc.identifier.uri | https://hdl.handle.net/11616/8030 | |
| dc.identifier.volume | 11 | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Cardiol Young 2001; 11: 559–56. | en_US |
| dc.relation.ispartof | Cardiol Young 2001; 11: 559–561 | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Short-limb dwarfism | en_US |
| dc.subject | Systemic abnormalities | en_US |
| dc.subject | Prolapse of the leaflet | en_US |
| dc.title | Pseudoachondroplasia in a child with prolapse of the mitral valve | en_US |
| dc.type | Article | en_US |
